Acute Intermittent Porphyria -- Where to start?

[awilson]

I have tons of symptoms that fit AIP, but I don't know where to begin in getting diagnosed.  Everything I've seen shows that you have to be tested during an attack.  I don't know how to go about starting this process especially since I just recently regained health insurance.  I have no personal physician at this time either.  Do I start with a general physician or some sort of specialist?  What kind of specialist -- neurologist, endocrinologist or something else?  How do I go about suggesting this as a possibility to a doctor without sounding like I'm some self-diagnosing hypochondriac??  I have to do something soon because this is getting worse all the time.  My attacks are happening on a daily basis now -- I haven't had a full night's sleep in over 2 years now because of the attacks.  Within the past 6 months, I've developed seizures -- I've had a dozen since June.  I had my gall bladder out in 2001, but gastric-wise I'm turning into an acid factory since all this has escalated.  Can anyone give me some advice?  Thanks so much!!!      Anita

[tigress92]

Hi, i have all the symptoms of AIP too. i've been tested for it but i only had a blood test done but they did it when i wasn't having an attack, so it came back normal. I've heard that if you take a urine sample and leave it out in the sun for 24 hrs, it will turn purple if you have AIP. i know it sounds gross, but if you're wondering if you have AIP or not, it might not be a bad idea.

[Dr_Veena]

Hi,
     How are you? Porphyrias are a rare group of disorders passed down through families in which an important part of hemoglobin, called heme, does not develop properly. Many people never experience symptoms.  Symptoms may include acute onset of vomiting, abdominal or back pain, weakness in arms or legs, and mental symptoms. Acute intermittent porphyria is due to a deficiency of the enzyme porphobilinogen deaminase that leads to accumulation of the heme precursors delta-aminolevulinic acid and porphobilinogen initially in the liver. The disorder is inherited due to a single abnormal gene from one parent.

Many drugs (including barbiturates, anticonvulsants, and sulfonamide antibiotics) can bring on an attack. A rapid heart rate, high blood pressure, sweating, urinary retention, insomnia, tremors, seizures and restlessness are also common during attacks. Mental symptoms are common, from irritation, restlessness, insomnia, and agitation to tiredness and depression.  

Laboratory tests done on  samples of urine taken during an attack show increased levels of two heme precursors. Levels of these precursors are very high during attacks and remain high in people who have repeated attacks.  Relatives without symptoms can be identified as carriers of the disorder by measuring porphobilinogen deaminase in red blood cells or sometimes by DNA testing.
I would suggest that you consult your general physician for further assistance in diagnosis and treatment of this condition.
Best.